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Your search keyword '"Stumpel, Connie T.R.M."' showing total 8 results

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8 results on '"Stumpel, Connie T.R.M."'

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1. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

2. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

5. Clinical and Cytogenetic Characterization of 13 Dutch Patients With Deletion 9p Syndrome: Delineation of the Critical Region for a Consensus Phenotype

6. Follow-Up Study of Growth Hormone Therapy in Children with Kabuki Syndrome: Two-Year Treatment Results.

7. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

8. Management of a severe forceful breather with Rett Syndrome using carbogen

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